Chronic myeloid leukemia
Big picture
Chronic myeloid leukemia (CML) is the classic Philadelphia chromosome-positive chronic myeloproliferative neoplasm. The whole topic is built around one molecular event:
t(9;22) → BCR::ABL1 fusion gene → constitutively active tyrosine kinase → uncontrolled granulocytic proliferation.
For the exam, recognize CML by:
Marked leukocytosis
+ full spectrum of granulocyte maturation in peripheral blood
+ basophilia/eosinophilia
+ splenomegaly
+ Philadelphia chromosome / BCR::ABL1 positivity
The textbook describes CML as a rare chronic myeloproliferative neoplasm with incidence about 1–2/100,000/year, usually diagnosed in older adults, with a slight male predominance. It is defined by the Philadelphia chromosome, caused by reciprocal translocation between chromosomes 9 and 22, producing the BCR::ABL1 oncogene.
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